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Radiographic evaluation and unusual bone formations in different genetic patterns in synpolydactyly
Aylin Yucel1, Ilhami Kuru, M Eray Bozan
1Department of Radiology, Afyon Kocatepe University School of Medicine, 03200, Afyon, Turkey. aylin_y@yahoo.com
Skeletal Radiology
|June 11, 2005
Summary
Homozygous synpolydactyly (SPD) presents with more distinct bone malformations than heterozygous SPD. This genetic condition shows varied bone development, highlighting the severity of its expression.
Area of Science:
- Orthopedics
- Medical Genetics
- Radiology
Background:
- Synpolydactyly (SPD) is a congenital limb malformation.
- Genetic variations influence the clinical and radiological presentation of SPD.
Purpose of the Study:
- To compare radiological findings in heterozygous and homozygous synpolydactyly (SPD).
- To document and discuss unusual bone formations associated with SPD phenotypes.
Main Methods:
- Genetic analysis of affected families.
- Clinical and radiographic examinations of individuals with SPD.
- Pedigree construction to track inheritance patterns.
Main Results:
- 16 subjects (12 heterozygotes, 4 homozygotes) were analyzed.
- Homozygous SPD exhibited more distinctive unusual bone formations compared to heterozygotes.
- Six types of unusual bone formations were identified, including delta phalanx and pseudoepiphysis.
Conclusions:
- Radiological and clinical manifestations differ significantly between homozygous and heterozygous SPD.
- The presence and variety of unusual bones correlate with the severity of SPD penetrance and expressivity.